ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3423+10C>A

gnomAD frequency: 0.00004  dbSNP: rs876657577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000223428 SCV000270812 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing c.3423+10C>A in intron 28 of RYR2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence.
Invitae RCV002517500 SCV003515195 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-09-27 criteria provided, single submitter clinical testing

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